NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 15, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000314245.5

Allele description [Variation Report for NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)]

NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)

Gene:
ATP1A3:ATPase Na+/K+ transporting subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
HGVS:
  • NC_000019.10:g.41970275C>T
  • NG_008015.1:g.28956G>A
  • NM_001256213.2:c.2485G>A
  • NM_001256214.2:c.2491G>A
  • NM_152296.5:c.2452G>AMANE SELECT
  • NP_001243142.1:p.Glu829Lys
  • NP_001243143.1:p.Glu831Lys
  • NP_689509.1:p.Glu818Lys
  • NP_689509.1:p.Glu818Lys
  • LRG_1186t1:c.2452G>A
  • LRG_1186:g.28956G>A
  • LRG_1186p1:p.Glu818Lys
  • NC_000019.9:g.42474427C>T
  • NM_001256214.1:c.2491G>A
  • NM_152296.3:c.2452G>A
  • NM_152296.4:c.2452G>A
  • P13637:p.Glu818Lys
Protein change:
E818K; GLU818LYS
Links:
UniProtKB: P13637#VAR_070772; OMIM: 182350.0014; dbSNP: rs587777771
NCBI 1000 Genomes Browser:
rs587777771
Molecular consequence:
  • NM_001256213.2:c.2485G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256214.2:c.2491G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152296.5:c.2452G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329953GeneDxcriteria provided, single submitter
Pathogenic
(Dec 15, 2020)
germlineclinical testing

Citation Link,

SCV001247063CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Mar 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000329953.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate a damaging effect with reduced pump turnover rate and failure to rapidly regain the resting membrane potential following action potentials (Roenn et al., 2019); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 28483396, 24431296, 24468074, 20301294, 25056583, 26410222, 26400718, 26453127, 25895915, 27091223, 26795593, 29090527, 29184165, 28708278, 29305691, 29625811, 30409907, 29397530, 29915382, 30904181, 31410291, 31737037, 31942761, 32907636, 32135597, 32576493)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247063.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Dec 4, 2021

Support Center